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Pyridoxal phosphate-responsive seizures

Disease definition

A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

ORPHA:79096

Classification level: Disorder
  • Synonym(s):
    • PNPO deficiency
    • PNPO-related neonatal epileptic encephalopathy
    • Pyridoxal phosphate-dependent seizures
    • Pyridoxamine 5'-oxidase deficiency
    • Pyridoxamine 5'-phosphate oxidase deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G40.8
  • OMIM: 610090
  • UMLS: C1864723
  • MeSH: -
  • GARD: 10730
  • MedDRA: -
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